PRACTICAL NEUROLOGY最新文献

We describe a woman with stiff-person syndrome (SPS), whose muscle spasms resulted in sequential bilateral femoral neck fractures. Orthopaedic fixation of the first fracture was complicated by increased muscle spasm, fracture nonunion and ultimately metalwork fracture. SPS was diagnosed following the fracture of the contralateral femoral neck, neurology assessment and detection of high-titre antibodies to glutamic acid decarboxylase. Multidisciplinary management with high-dose benzodiazepines, intravenous immunoglobulin infusions, and bilateral total hip replacements achieved a good functional outcome. Spasms associated with SPS are a rare cause of pathological fractures and may cause orthopaedic fixation to fail. Early recognition and multidisciplinary care are essential to prevent additional morbidity.

Explaining basic illness mechanisms is an important step in communicating functional neurological symptoms. Clinical signs for motor symptoms, such as the Hoover test, have proven an excellent basis for mechanistic explanations. Here, I recommend a simple technique for eliciting tingling sensations through directed bodily attention, as a helpful experiential starting point for explanations of sensory gating and somatosensory amplification in patients with functional hyperaesthesia, paraesthesia and chronic pain.

A man aged in his sixties presented to the emergency department with vomiting, dizziness and generalised weakness preceded by perioral and peripheral paraesthesias for several hours. He did not speak English and was visiting from overseas. Examination revealed multidirectional nystagmus, subtle bilateral ptosis, marked bilateral upper limb dysmetria and heel-shin ataxia, with mild proximal limb weakness. Brain imaging was unremarkable. Further history revealed the man had gone fishing and eaten a fish he had caught earlier that day. He was subsequently diagnosed with tetrodotoxin toxicity from pufferfish ingestion. He was managed supportively and made a complete recovery. Tetrodotoxicity has been hitherto considered rare outside of Southeast Asia, but rising water temperatures and human interventions have facilitated the migration of marine species containing tetrodotoxin to a wider geographical range.

HyperCKaemia is common in several myopathies but can accompany other disorders, including neuropathies. However, distinguishing neurogenic from myopathic hyperCKaemia is not always straightforward. A 58-year-old man had experienced muscle cramps and fatiguability since aged 3 years, with persistently high serum creatine kinase (CK). A positive family history prompted genetic testing for Charcot-Marie-Tooth disease type 1A, which was positive. However, his serum CK remained persistently high and neurological examination 17 years later identified diffuse muscle atrophy and weakness. Genetic testing for dystrophinopathy identified a novel missense variant on the DMD gene. Patients whose serum CK is in 'myopathic range', even those with definite neurogenic disease, should be investigated for additional myopathy, since this may require additional monitoring for pulmonary and cardiac complications.

A 38-year-old man developed headache, dysarthria and dysphasia after insufflation of cocaine. Brain imaging showed multiple white matter lesions, suggesting acute disseminated encephalomyelitis (ADEM), but the clinical features were atypical for demyelination. These lesions may represent a levamisole-associated vascular endotheliopathy, with a mechanism similar to posterior reversible encephalopathy syndrome. Levamisole is a no longer used chemotherapeutic agent but is a legally acquirable veterinary antihelminthic and is often used to adulterate cocaine. Given the rise in cocaine-related hospitalisations, this case raises awareness of an important ADEM mimic.